Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000621563 | SCV000735522 | likely benign | Cardiovascular phenotype | 2016-09-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170096 | SCV001332635 | likely benign | Cardiomyopathy | 2019-01-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001396119 | SCV001597841 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282265 | SCV002571021 | likely benign | not specified | 2022-07-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491311 | SCV002798876 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432653 | SCV004148192 | uncertain significance | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |